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Results:
1-23
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Results: 23
Authors:
Houten, SM
Koster, J
Romeijn, GJ
Frenkel, J
Di Rocco, M
Caruso, U
Landrieu, P
Kelley, RI
Kuis, W
Poll-The, BT
Gibson, KM
Wanders, RJA
Waterham, HR
Citation: Sm. Houten et al., Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001), EUR J HUM G, 9(8), 2001, pp. 651-651
Authors:
Houten, SM
Koster, J
Romeijn, GJ
Frenkel, J
Di Rocco, M
Caruso, U
Landrieu, P
Kelley, RI
Kuis, W
Poll-The, BT
Gibson, KM
Wanders, RJA
Waterham, HR
Citation: Sm. Houten et al., Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome, EUR J HUM G, 9(4), 2001, pp. 253-259
Authors:
Faravelli, F
Di Rocco, M
Stella, G
Selicorni, A
Camera, G
Citation: F. Faravelli et al., Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings, CLIN DYSMOR, 10(2), 2001, pp. 101-103
Authors:
Veneselli, E
Perrone, MV
Di Rocco, M
Gaggero, R
Biancheri, R
Citation: E. Veneselli et al., Malignant migrating partial seizures in infancy, EPILEPSY R, 46(1), 2001, pp. 27-32
Authors:
Giacchino, R
Timitilli, A
Castellano, E
Di Rocco, M
Fiore, P
Soncini, R
Romano, L
Citation: R. Giacchino et al., Hepatitis A vaccine in pediatric patients affected by metabolic liver diseases, PEDIAT INF, 20(8), 2001, pp. 805-807
Authors:
Ferrari, MC
Parini, R
Di Rocco, M
Radetti, G
Beck-Peccoz, P
Persani, L
Citation: Mc. Ferrari et al., Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation, EUR J ENDOC, 144(4), 2001, pp. 409-416
Authors:
Di Rocco, M
Doria-Lamba, L
Caruso, U
Citation: M. Di Rocco et al., Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes, ANN NEUROL, 50(3), 2001, pp. 424-424
Authors:
Di Rocco, M
Caruso, U
Waterham, HR
Picco, P
Loy, A
Wanders, RJA
Citation: M. Di Rocco et al., Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D, J INH MET D, 24(3), 2001, pp. 411-412
Authors:
Rossi, E
Piccini, F
Zollino, M
Neri, G
Caselli, D
Tenconi, R
Castellan, C
Carrozzo, R
Danesino, C
Zuffardi, O
Ragusa, A
Castiglia, L
Galesi, O
Greco, D
Romano, C
Pierluigi, M
Perfumo, C
Di Rocco, M
Faravelli, F
Bricarelli, FD
Bonaglia, M
Bedeschi, M
Borgatti, R
Citation: E. Rossi et al., Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations, J MED GENET, 38(6), 2001, pp. 417-420
Authors:
Picco, P
Gattorno, M
Di Rocco, M
Buoncompagni, A
Citation: P. Picco et al., Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome, ANN RHEUM D, 60(9), 2001, pp. 904-904
Authors:
Morrone, A
Bardelli, T
Donati, MA
Giorgi, M
Di Rocco, M
Gatti, R
Parini, R
Ricci, R
Taddeucci, G
D'Azzo, A
Zammarchi, E
Citation: A. Morrone et al., beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement, HUM MUTAT, 15(4), 2000, pp. 354-366
Authors:
Di Rocco, M
Buoncompagni, A
Loy, A
Dellacqua, A
Citation: M. Di Rocco et al., Osteopetrorickets: case report, EUR J PED, 159(8), 2000, pp. 579-581
Authors:
Zollino, M
Di Stefano, C
Zampino, G
Mastroiacovo, P
Wright, TJ
Sorge, G
Selicorni, A
Tenconi, R
Zappala, A
Battaglia, A
Di Rocco, M
Palka, G
Pallotta, R
Altherr, MR
Neri, G
Citation: M. Zollino et al., Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome, AM J MED G, 94(3), 2000, pp. 254-261
Authors:
Gaetani, P
Tancioni, F
Di Rocco, M
Baena, RRY
Citation: P. Gaetani et al., Isolated cerebellar involvement in Rosai-Dorfman disease: Case report, NEUROSURGER, 46(2), 2000, pp. 479-481
Authors:
Di Rocco, M
Barone, R
Adami, A
Burlina, A
Carrozzi, M
Dionisi-Vici, C
Gatti, R
Iannetti, P
Parini, R
Raucci, U
Roccella, M
Spada, M
Fiumara, A
Citation: M. Di Rocco et al., Carbohydrate-deficient glycoprotein syndromes: The Italian experience, J INH MET D, 23(4), 2000, pp. 391-395
Authors:
Sperandeo, MP
Bassi, MT
Riboni, M
Parenti, G
Buoninconti, A
Manzoni, M
Incerti, B
Larocca, MR
Di Rocco, M
Strisciuglio, P
Dianzani, I
Parini, R
Candito, M
Endo, F
Ballabio, A
Andria, G
Sebastio, G
Borsani, G
Citation: Mp. Sperandeo et al., Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance, AM J HU GEN, 66(1), 2000, pp. 92-99
Authors:
Canossi, A
Piancatelli, D
Papola, F
Di Rocco, M
Del Beato, T
Liberatore, G
Casciani, CU
Adorno, D
Citation: A. Canossi et al., Sequence analysis of a new HLA-DR11 allele in a Caucasian Italian family: DRB111272, TISSUE ANTI, 56(5), 2000, pp. 470-472
Authors:
Veneselli, E
Biancheri, R
Di Rocco, M
Fondelli, MP
Perrone, MV
Donati, PT
Citation: E. Veneselli et al., Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly, CHILD NERV, 15(5), 1999, pp. 274-277
Authors:
Di Rocco, M
Caruso, U
Moroni, I
Lupino, S
Lamantea, E
Fantasia, AR
Borrone, C
Gibson, KM
Citation: M. Di Rocco et al., 3-methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease, J INH MET D, 22(5), 1999, pp. 593-A598
Authors:
Di Rocco, M
Buoncompagni, A
Gattorno, M
Picco, P
Vignola, S
Borrone, C
Citation: M. Di Rocco et al., Case report: Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs (vol 21, pg 675, 1998), J INH MET D, 22(1), 1999, pp. 73-73
Authors:
Gattorno, M
Picco, P
Vignola, S
Di Rocco, M
Buoncompagni, A
Citation: M. Gattorno et al., Brother and sister with different vasculitides, LANCET, 353(9154), 1999, pp. 728-728
Authors:
Adorno, D
Canossi, A
Piazza, A
Poggi, E
Papola, F
Di Rocco, M
Liberatore, G
Del Beato, T
Ozzella, G
Anaclerio, M
Casciani, CU
Citation: D. Adorno et al., The role of beta-pleated sheet DRB1 differences in acute rejection after cadaveric renal transplant, TRANSPLAN P, 31(1-2), 1999, pp. 730-733
Authors:
Di Rocco, M
Arslanian, A
Romanengo, M
Dagna-Bricarelli, F
Borrone, C
Citation: M. Di Rocco et al., Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cellhistiocytosis in a patient with an unknown breakage syndrome, J MED GENET, 36(2), 1999, pp. 159-160
Risultati:
1-23
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